Cruts M, Dermaut B, Rademakers R, Roks G, Van den Broeck M, Munteanu G, van Duijn C M, Van Broeckhoven C
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Universiteitsplein 1, B-2018 Antwerp, Belgium.
Neurosci Lett. 2001 Nov 2;313(1-2):105-7. doi: 10.1016/s0304-3940(01)02234-0.
The beta-site of beta-amyloid precursor protein cleaving enzyme (BACE) cleaves the beta-amyloid (Abeta) precursor protein at the N-terminal end of Abeta, allowing for the production of Abeta by C-terminal gamma-secretase cleavage. We hypothesized that over-activity of BACE might lead to the overproduction of Abeta, hence causing Alzheimer's disease (AD). Molecular genetic analyses of BACE in 9 autosomal dominant AD families and a population-based sample of 101 presenile AD cases did not identify genetic linkage, pathogenic mutations or genetic association with BACE, suggesting that BACE is not genetically involved in the etiology of AD.
β-淀粉样前体蛋白裂解酶（BACE）的β位点在β-淀粉样蛋白（Aβ）的N末端切割Aβ前体蛋白，使得通过C末端γ-分泌酶切割产生Aβ。我们推测，BACE活性过高可能导致Aβ产生过多，进而引发阿尔茨海默病（AD）。对9个常染色体显性AD家族中的BACE以及101例早老性AD病例的群体样本进行分子遗传学分析，未发现与BACE存在遗传连锁、致病突变或基因关联，这表明BACE在AD的病因学中没有遗传方面的参与。
